POU3F4 POU class 3 homeobox 4
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 14 | 66 |
Likely pathogenic | 0 | 30 |
Benign | 0 | 21 |
Likely benign | 0 | 40 |
Conflicting classifications of pathogenicity | 0 | 10 |
not provided | 6 | 4 |
Uncertain significance | 0 | 76 |
Ranking
ClinVar | |
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0 |
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0 |
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18 |
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165 |
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40 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | BRAIN-4 |
SYNONYM | BRN-4 |
SYNONYM | BRN4 |
SYNONYM | DFN3 |
SYNONYM | DFNX2 |
SYNONYM | OCT-9 |
SYNONYM | OTF-9 |
SYNONYM | OTF9 |
MIM | 300039 OMIM |
HGNC | HGNC:9217 HGNC |
Ensembl | ENSG00000196767 Ensembl |
AllianceGenome | HGNC:9217 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000644024.2 | hg38 | chrX | 83,508,290 | 83,512,127 | 3,838 |
ENST00000644024.2 | hg19 | chrX | 82,763,298 | 82,767,135 | 3,838 |
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